Doklady Biochemistry and Biophysics最新文献

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20-Hydroxyecdysone Modulates Gene-Specific Immune Response to Metarhizium anisopliae Infection in Drosophila melanogaster S2 Cell Culture 20-羟基脱皮激素调节黑尾果蝇S2细胞对绿僵菌感染的基因特异性免疫反应。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-12-02 DOI: 10.1134/S1607672925601398
M. Ghassah, Y. A. Ulianova,  P. G. Georgiev, Y. V. Shidlovskii, Z. M. Kachaev
{"title":"20-Hydroxyecdysone Modulates Gene-Specific Immune Response to Metarhizium anisopliae Infection in Drosophila melanogaster S2 Cell Culture","authors":"M. Ghassah,&nbsp;Y. A. Ulianova,&nbsp; P. G. Georgiev,&nbsp;Y. V. Shidlovskii,&nbsp;Z. M. Kachaev","doi":"10.1134/S1607672925601398","DOIUrl":"10.1134/S1607672925601398","url":null,"abstract":"<p>The interplay between innate immunity and other signaling pathways remains a central focus in immunological research, with considerable ongoing investigation. Of particular interest are studies exploring the influence of the hormonal system on the innate immunity of <i>Drosophila melanogaster</i>. In this study, we performed a comprehensive analysis of the combined effects of the insect hormone 20-hydroxyecdysone (20E) and spores from the fungus <i>Metarhizium anisopliae</i> on the innate immune response in <i>D. melanogaster</i> S2 cell culture, addressing this interaction for the first time. Our results demonstrate that, compared to cells exposed solely to <i>M. anisopliae</i> spores, pretreatment with 20E followed by fungal challenge led to a reduction in the transcription of antimicrobial peptide genes <i>CecropinA1</i> and <i>Drosocin</i>. In contrast, expression of the <i>Metchnikowin</i> (<i>Mtk</i>) gene was upregulated. No significant alterations were observed in the transcription levels of <i>Drosomycin</i> or in genes encoding key receptors, transcription factors, or other components of innate immune signaling pathways. Furthermore, knockdown of the transcription factor Relish markedly decreased <i>Mtk</i> expression, highlighting its central role in hormone-modulated antifungal immunity. These findings reveal complex hormonal–immune crosstalk that differentially regulates AMP gene expression in <i>Drosophila</i>.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"525 1","pages":"558 - 561"},"PeriodicalIF":0.7,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145652954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MLE/DHX9 without Helicase Activity Activates Constitutive Expression of Nuclear Receptor Genes in Drosophila melanogaster 无解旋酶活性的MLE/DHX9激活黑腹果蝇核受体基因的组成表达。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-12-02 DOI: 10.1134/S1607672925601180
I. A. Zolin, A. A. Grigel,  S. G. Georgieva, J. V. Nikolenko
{"title":"MLE/DHX9 without Helicase Activity Activates Constitutive Expression of Nuclear Receptor Genes in Drosophila melanogaster","authors":"I. A. Zolin,&nbsp;A. A. Grigel,&nbsp; S. G. Georgieva,&nbsp;J. V. Nikolenko","doi":"10.1134/S1607672925601180","DOIUrl":"10.1134/S1607672925601180","url":null,"abstract":"<p>MLE/DHX9 is a DNA/RNA helicase that performs important functions in gene expression regulation in eukaryotes. However, the specific role of MLE and the mechanisms by which this regulation is carried out remain poorly understood. This work is devoted to the study of the effect of MLE on the constitutive expression of nuclear receptor genes in <i>D. melanogaster</i>. The nuclear receptors Eip75B, DHR3, and Hr4 are evolutionarily conserved and have orthologs in humans. In <i>D. melanogaster</i>, <i>Eip</i>75<i>B, DHR</i>3, and <i>Hr</i>4 are activated in the ecdysone cascade, but they are also expressed at a stable level in various tissues and at various stages of development. The experiments were carried in vivo at the imago stage in females and in S2 cell culture. Taken together, the results indicate that MLE is involved in activating the expression of these genes. At the same time, the helicase activity of MLE is not necessary for activation. The results obtained extend knowledge about the functions of MLE beyond dosage compensation, as potentially conserved in evolution, and contribute to understanding the mechanisms of regulation of nuclear receptor expression.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"525 1","pages":"527 - 531"},"PeriodicalIF":0.7,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145652906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of the Antitumor Effect of High-Energy Protons, Helium Ions, and Carbon during Irradiation of Ehrlich Adenocarcinoma Ascites Cells Ex Vivo 体外评价高能质子、氦离子和碳辐照埃利希腺癌腹水细胞的抗肿瘤作用。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-12-02 DOI: 10.1134/S1607672925601209
V. E. Balakin, N. S. Strelnikova, O. M. Rozanova, E. N. Smirnova, T. A. Belyakova, A. V. Smirnov
{"title":"Evaluation of the Antitumor Effect of High-Energy Protons, Helium Ions, and Carbon during Irradiation of Ehrlich Adenocarcinoma Ascites Cells Ex Vivo","authors":"V. E. Balakin,&nbsp;N. S. Strelnikova,&nbsp;O. M. Rozanova,&nbsp;E. N. Smirnova,&nbsp;T. A. Belyakova,&nbsp;A. V. Smirnov","doi":"10.1134/S1607672925601209","DOIUrl":"10.1134/S1607672925601209","url":null,"abstract":"<p>The regularities of tumor induction and growth in mice were studied during a single <i>ex vivo</i> irradiation of Ehrlich adenocarcinoma ascites cells with a beam of protons, helium ions (<sup>4</sup>Не), and carbon ions (<sup>12</sup>С) at doses of 10, 20, and 30 Gy. It was shown that, when tumor cells were exposed to all types of radiation, a dose-dependent increase in the antitumor effect was observed in the latent period of tumor appearance, the frequency of their induction, and tumor growth inhibition. According to all indices, <sup>12</sup>C had the greatest antitumor effect, <sup>4</sup>He occupied an intermediate position, and protons caused the least effect.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"525 1","pages":"541 - 547"},"PeriodicalIF":0.7,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145652934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Structural and Functional Features of Melatonin Biosynthesis Genes SNAT1 and SNAT2 in Tomato and Garlic Plants 番茄和大蒜褪黑素合成基因SNAT1和SNAT2的结构和功能特征
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-12-02 DOI: 10.1134/S1607672925601349
O. K. Anisimova, A. V. Shchennikova, E. Z. Kochieva
{"title":"Structural and Functional Features of Melatonin Biosynthesis Genes SNAT1 and SNAT2 in Tomato and Garlic Plants","authors":"O. K. Anisimova,&nbsp;A. V. Shchennikova,&nbsp;E. Z. Kochieva","doi":"10.1134/S1607672925601349","DOIUrl":"10.1134/S1607672925601349","url":null,"abstract":"<p>A comparative structural-phylogenetic and expression analysis of the <i>SNAT1</i> and <i>SNAT2</i> genes of tomato <i>Solanum lycopersicum</i> and garlic <i>Allium sativum</i> was performed. It was shown that the <i>SNAT1</i> and <i>SNAT2</i> are intron-rich and intronless genes, respectively, and may have different evolutionary origins. It was predicted that, unlike the chloroplast protein <i>SNAT1</i>, <i>SNAT2</i> has features of chloroplast-mitochondrial localization. The highest expression level of <i>SNAT1</i> and <i>SNAT2</i> was detected (in silico and qRT-PCR) in leaves, while in roots and mature storage organs it was significantly lower; <i>SNAT2</i> was not expressed in garlic roots and bulbs. It was found that the expression level of <i>SNAT2</i> in tomato plant organs is higher than the expression level of <i>SNAT1</i>, while for garlic the opposite ratio was observed.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"525 1","pages":"548 - 552"},"PeriodicalIF":0.7,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145652930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of Femtosecond Laser Radiation on Cognitive Abilities in Mice 飞秒激光辐射对小鼠认知能力的影响。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-11-20 DOI: 10.1134/S1607672925601234
G. R. Ivanitskii, S. S. Sorokina, A. R. Dyukina, V. I. Yusupov
{"title":"Effect of Femtosecond Laser Radiation on Cognitive Abilities in Mice","authors":"G. R. Ivanitskii,&nbsp;S. S. Sorokina,&nbsp;A. R. Dyukina,&nbsp;V. I. Yusupov","doi":"10.1134/S1607672925601234","DOIUrl":"10.1134/S1607672925601234","url":null,"abstract":"<p>The effect of low-intensity femtosecond laser radiation (200 fs, 525 nm, 5 mW) on cognitive abilities of mice at late stages after exposure was studied. Open field and Barnes maze tests were performed 5 months after a single irradiation to assess general activity, anxiety level, and spatial learning ability. Irradiated animals retained normal motor skills, did not show anxiety, and demonstrated stable long-term memory when performing spatial learning tasks. Irradiated mice showed no changes in the model of locomotor and psychoemotional behavior or disturbances in spatial learning and memory, while they better preserved the memory trace on the 9th day after training compared to control animals. The obtained results indicate the potential of photobiomodulation with femtosecond pulses as a promising non-drug method for the prevention and correction of cognitive impairment, including those caused by radiation therapy.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"524 1","pages":"514 - 518"},"PeriodicalIF":0.7,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145562094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fatty Acid Composition of the European Pearl Mussel Margaritifera margaritifera from Different Rivers of the White Sea Basin 白海盆地不同河流欧洲珍珠贻贝的脂肪酸组成。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-11-20 DOI: 10.1134/S1607672925601283
S. N. Khurtina, V. P. Voronin, E. P. Ieshko, N. N. Fokina, D. A. Efremov, S. A. Murzina
{"title":"Fatty Acid Composition of the European Pearl Mussel Margaritifera margaritifera from Different Rivers of the White Sea Basin","authors":"S. N. Khurtina,&nbsp;V. P. Voronin,&nbsp;E. P. Ieshko,&nbsp;N. N. Fokina,&nbsp;D. A. Efremov,&nbsp;S. A. Murzina","doi":"10.1134/S1607672925601283","DOIUrl":"10.1134/S1607672925601283","url":null,"abstract":"<p>The fatty acid (FA) composition of the mantle, foot (muscle), and hepatopancreas of the European pearl mussel <i>Margaritifera margaritifera</i> from the Kem River (estuary), the Ukhta River, and the Vozhma River (Republic of Karelia, Russia) was studied for the first time. All tissues of the pearl mussel from the studied rivers were shown to have a higher content of saturated and polyunsaturated FAs compared to monounsaturated ones, which may be due to the post-spawning period. In the hepatopancreas of the pearl mussel, a predominance of polyunsaturated FAs due to the FAs of n-3 family, as well as a higher amount of 16:1(n-7), 18:1(n-7), 18:3(n-3), 20:5(n-3), and 22:6(n-3) FAs and a lower amount of 16:0, 18:0, 18:1(n-9), 20:1(n-11), and 20:4(n-6) FAs compared to the foot and mantle was shown. An important distinctive feature of <i>M. margaritifera</i> is the high amount of 20:1(n-11) FA. Mollusks from the Kem River estuary were distinguished by a higher content of 18:0 and 20:5(n-3) FAs in all the studied tissues and a lower content of 18:1(n-7), 18:2(n-6), and 22:6(n-3) FAs. The obtained data are important for monitoring work to assess the state of pearl mussel populations in different rivers of the European North (in particular, using physiological and biochemical indices).</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"524 1","pages":"519 - 526"},"PeriodicalIF":0.7,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145562104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Impact of the Protein-Opener of the Desmoglein Contacts on the Accumulation of Targeted Nanoagents in HER2-Positive Solid Tumors 在her2阳性实体瘤中,蛋白开片蛋白接触对靶向纳米药物积累的影响。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-10-13 DOI: 10.1134/S1607672925600551
G. M. Proshkina, E. I. Shramova, A. B. Mirkasymov, E. V. Serova,  S. M. Deyev
{"title":"The Impact of the Protein-Opener of the Desmoglein Contacts on the Accumulation of Targeted Nanoagents in HER2-Positive Solid Tumors","authors":"G. M. Proshkina,&nbsp;E. I. Shramova,&nbsp;A. B. Mirkasymov,&nbsp;E. V. Serova,&nbsp; S. M. Deyev","doi":"10.1134/S1607672925600551","DOIUrl":"10.1134/S1607672925600551","url":null,"abstract":"<p>Despite significant progress in oncotherapy, oncological diseases continue to pose a serious problem for public health. The limited penetration of nanoscale therapeutic drugs into solid tumors, due to the presence of tight intercellular junctions, does not allow achieving therapeutically effective drug concentrations in distal tumor cells, which leads to the appearance of drug resistance. In this work, to increase the accumulation of HER2-specific small gold nanoparticles (DARPin-AuNPs) in solid tumors, the use of these particles in combination with the protein-opener of desmoglein junctions (junction opener 4, JO-4) is proposed. A quantitative assessment of gold biodistribution in mice showed that co-administration of DARPin-AuNP/JO-4 in vivo increased particle accumulation in tumors by approximately 2.5-fold compared to administration of DARPin-AuNP alone.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"523 1","pages":"477 - 481"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145285101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expression Level of Carotenoid Biosynthesis Genes in Leaves Is Associated with Cold Tolerance of Zea mays L. Plants 玉米叶片类胡萝卜素生物合成基因表达水平与抗寒性的关系
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-10-13 DOI: 10.1134/S1607672925600502
D. Kh. Arkhestova, E. Z. Kochieva, A. V. Shchennikova
{"title":"Expression Level of Carotenoid Biosynthesis Genes in Leaves Is Associated with Cold Tolerance of Zea mays L. Plants","authors":"D. Kh. Arkhestova,&nbsp;E. Z. Kochieva,&nbsp;A. V. Shchennikova","doi":"10.1134/S1607672925600502","DOIUrl":"10.1134/S1607672925600502","url":null,"abstract":"<p>The expression profile of the key carotenoid biosynthesis genes (<i>ZmPSY</i>1, <i>ZmPSY</i>2, <i>ZmLcyE</i>) was determined in the dynamics of cold stress and post-stress recovery in the leaves of <i>Zea mays</i> L. plants of four cold-tolerant (breeders’ data) inbred lines (L-5580-1, L-6097-1, L-5254-3, and L-5272-6). It was shown that, under normal growing conditions, the expression level of all three genes in the L-5580-1 line was significantly higher compared to other lines. It was revealed that low-temperature exposure affects the trends of gene expression fluctuations in a similar way between the lines. It was determined that, in the stress dynamics, the co-expression pattern of the <i>ZmPSY</i>1 and <i>ZmPSY</i>2 genes in the leaves of L-5580-1 plants is coordinated with changes in the carotenoid content.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"523 1","pages":"466 - 470"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145285497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of LYS-ARG-ARG-LYS-PRO-GLY-PRO Peptide, Warfarin, and Acetylsalicylic Acid on Lipid Metabolism in Rats with Metabolic Syndrome LYS-ARG-ARG-LYS-PRO-GLY-PRO肽、华法林和乙酰水杨酸对代谢综合征大鼠脂质代谢的影响。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-10-13 DOI: 10.1134/S1607672925600459
T. Yu. Obergan,  N. F. Myasoedov, T. A. Shubina, M. E. Grigorjeva, L. A. Lyapina
{"title":"Effects of LYS-ARG-ARG-LYS-PRO-GLY-PRO Peptide, Warfarin, and Acetylsalicylic Acid on Lipid Metabolism in Rats with Metabolic Syndrome","authors":"T. Yu. Obergan,&nbsp; N. F. Myasoedov,&nbsp;T. A. Shubina,&nbsp;M. E. Grigorjeva,&nbsp;L. A. Lyapina","doi":"10.1134/S1607672925600459","DOIUrl":"10.1134/S1607672925600459","url":null,"abstract":"<p>A comparative study of three drugs (KRRKPGP peptide, warfarin and acetylsalicylic acid) with an anticoagulant effect in the body was conducted. The drugs were administered orally in effective doses (peptide and warfarin 100 µg/kg, acetylsalicylic acid 1 mg/kg) for 7 days to laboratory rats with metabolic syndrome induced by a high-calorie diet (HCD). As early as 20 h after the last administration of the drugs, a decrease in the concentration of total cholesterol, low-density lipoprotein cholesterol, and triglycerides and an increase in the concentration of high-density lipoprotein cholesterol and a slowdown in the growth of body weight in rats were detected, which persisted for 7 days after stopping their administration. The greatest hypolipidemic effect was caused by the KRRKPGP peptide.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"523 1","pages":"482 - 485"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145285360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Differential Methylation of the Genes PAX8 and GATA4 Alters Their Expression in the Heart during Hypertrophic Cardiomyopathy 基因PAX8和GATA4的差异甲基化改变了它们在肥厚性心肌病心脏中的表达。
IF 0.7 4区 生物学
Doklady Biochemistry and Biophysics Pub Date : 2025-10-13 DOI: 10.1134/S1607672925601131
I. S. Kiselev, E. A. Dashtieva, M. V. Pisklova, O. S. Chumakova, A. S. Zotov, M. R. Kabilov, O. A. Baturina, D.A. Zateyshchikov, O. O. Favorova
{"title":"Differential Methylation of the Genes PAX8 and GATA4 Alters Their Expression in the Heart during Hypertrophic Cardiomyopathy","authors":"I. S. Kiselev,&nbsp;E. A. Dashtieva,&nbsp;M. V. Pisklova,&nbsp;O. S. Chumakova,&nbsp;A. S. Zotov,&nbsp;M. R. Kabilov,&nbsp;O. A. Baturina,&nbsp;D.A. Zateyshchikov,&nbsp;O. O. Favorova","doi":"10.1134/S1607672925601131","DOIUrl":"10.1134/S1607672925601131","url":null,"abstract":"<p>Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease with a prevalence ranging from 1 : 500 to 1 : 200 individuals. The development and clinical presentation of HCM do not always conform to the traditional view of its monogenic inheritance pattern. One key to addressing this issue may lie in identifying epigenetic mechanisms regulating gene expression, particularly DNA methylation, involved in the pathogenesis of the disease and modifying its course. Using previously obtained whole-genome data, we identified four extended genomic regions with reduced methylation levels in the myocardium of patients with HCM. These include region chr2:113993204-113994075, located within the transcribed area of the <i>PAX</i>8 gene, as well as three other regions (chr6:31148369-31148577, chr8:11565217-11567212, and chr8:22132791-22133357), which are associated with promoters of genes <i>PSORS1C</i>3, <i>GATA</i>4, and <i>PIWIL</i>2, respectively. We demonstrated altered expression of <i>PAX</i>8 and <i>GATA</i>4 genes containing one each of these four mentioned regions. Our findings will expand the currently very limited understanding of the unique features of epigenetic regulation in this condition.</p>","PeriodicalId":529,"journal":{"name":"Doklady Biochemistry and Biophysics","volume":"524 1","pages":"491 - 497"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145285327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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